A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609528



Internal ID21557833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139583495..139583495hg38UCSC Ensembl
chr3:139302337..139302337hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130775
SamplesHG00731
Known GenesNMNAT3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609528
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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